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Table 4 Relationship between clinical characteristics and different mutation types (helical mutation vs. haploinsufficiency) in COL1A1 and COL1A2 of 71 patients with OI at the time of bone densitometry analysis

From: Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

  Helical mutation (n = 29) Haploinsufficiency (n = 42) p value
OI Type (I/III/IV) 9/4/16 33/1/8 <0.001
COL1A1/COL1A2 mutation 9/20 42/0 <0.001
Gender (M/F) 12/17 15/27 0.635
Age (years) 21.8 ± 17.1 21.4 ± 17.0 0.941
Height SDS −2.93 ± 3.04 −0.61 ± 1.61 <0.001
Weight SDS −1.29 ± 1.67 −0.55 ± 1.44 <0.05
BMD SDS −2.73 ± 1.96 (n = 24) −1.70 ± 1.25 (n = 40) <0.05
Triangular face 21 % 17 % 0.672
Blue sclera 83 % 95 % 0.085
Dentinogenesis imperfecta 62 % 31 % <0.01
Hearing loss 17 % 21 % 0.668
Fracture at birth 14 % 5 % 0.184
Bone deformity 69 % 50 % 0.115
Scoliosis 52 % 26 % <0.05
Walking without assistance 76 % (n = 25) 98 % <0.01
  1. OI osteogenesis imperfecta, SDS standard deviation score, BMD bone mineral density